Human Disease and Mouse Model Detail

Human Disease

Term: Cystic Fibrosis; CF
OMIM ID: 219700

Synonyms

Mucoviscidosis

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Cftr

CFTR

...both mouse and human orthologous genes.

Tgfb1

TGFB1

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Transgenes and
other mutation types

Tg(Scgb1a1-Scnn1b)6608Bouc

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Cftr^tm1Bay/Cftr^tm1Bay		involves: 129S7/SvEvBrd * C57BL/6J	J:15244
Cftr^tm1Cam/Cftr^tm1Cam		involves: 129S/SvEv	J:2584
Cftr^tm1Eur/Cftr^tm1Eur		involves: 129P2/OlaHsd * FVB/N	J:28979
Cftr^tm1Eur/Cftr^tm1Eur		B6.129P2-Cftr^tm1Eur	J:189205
Cftr^tm1Hgu/Cftr^tm1Hgu		involves: 129P2/OlaHsd * MF1	J:14614
Cftr^tm1Hgu/Cftr^tm1Hgu		involves: 129P2/OlaHsd	J:24119
Cftr^tm1Hsc/Cftr^tm1Hsc		involves: 129S1/Sv * 129X1/SvJ * DBA/2J	J:31759
Cftr^tm1Hsc/Cftr^tm1Hsc		involves: 129S1/Sv * 129X1/SvJ * CD-1	J:31759
Cftr^tm1Kth/Cftr^tm1Kth		involves: 129S7/SvEvBrd * C57BL/6J	J:29074
Cftr^tm1Kth/Cftr^tm1Kth		B6.129S7-Cftr^tm1Kth	J:112450
Cftr^tm1Unc/Cftr^tm1Unc		B6.129P2-Cftr^tm1Unc/J	J:58571, J:112450
Cftr^tm1Unc/Cftr^tm1Unc		involves: 129P2/OlaHsd	J:2079
Cftr^tm2Cam/Cftr^tm2Cam		involves: 129S/SvEv	J:27734
Cftr^tm2Hgu/Cftr^tm2Hgu		involves: 129P2/OlaHsd * C57BL/6	J:74740
Cftr^tm2Mrc/Cftr^tm2Mrc		B6.129S6-Cftr^tm2Mrc	J:112450
Cftr^tm3Bay/Cftr^tm3Bay		involves: 129S7/SvEvBrd	J:29656
Cftr^tm3Hgu/Cftr^tm3Hgu		involves: 129P2/OlaHsd	J:32766
Cftr^tm3Mrc/Cftr^tm3Mrc		B6.129S6-Cftr^tm3Mrc	J:112450
Models involving transgenes or other mutation types.²
Tg(Scgb1a1-Scnn1b)6608Bouc/0		involves: C3H * C57BL/6	J:91139

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Models involving transgenes or other mutation types may also appear in other sections of the table.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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